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Likely inborn error of metabolism - targeted testing not possible v4.134 | G6PC | Arina Puzriakova Phenotypes for gene: G6PC were changed from Glycogen Storage Disease Type I; Glycogen Storage Disorders- Liver; Glycogen Storage Disease; Glycogen Storage Disease Ia; Glycogen storage disease Ia, 232200; Glycogen storage disease type 1a, von Gierke (Glycogen storage disorders); Glycogen storage disease Ia; fasting intolerance with enlarged liver, renal tubular disease to Glycogen storage disease Ia, OMIM:232200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.23 | PC | Arina Puzriakova Phenotypes for gene: PC were changed from Pyruvate carboxylase deficiency (Disorders of gluconeogenesis); lactic acidosis, hypotonia, encephalopathy; Pyruvate carboxylase deficiency 266150; Pyruvate carboxylase deficiency to Pyruvate carboxylase deficiency, OMIM:266150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v4.13 | MPC1 | Arina Puzriakova Phenotypes for gene: MPC1 were changed from Mitochondrial pyruvate carrier deficiency, 614741 to Mitochondrial pyruvate carrier deficiency, OMIM:614741 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.218 | XPNPEP3 | Sarah Leigh edited their review of gene: XPNPEP3: Added comment: Associated with relevant phenotype in OMIM and as limited Gen2Phen gene. At least three variants were reported in three unrelated cases (PMID: 32660933; 20179356). Two of the variants were terminating (RCV000000069, RCV001554332) and the third was a missense variant (RCV000000068), that seems to activate a cryptic splice site; RT-PCR of lymphoblastoid cells showed that this resulted in the inclusion of intronic bases and a frameshift. Cilia-related function was examined by the suppression of zebrafish xpnpep3, resulting in phenotypes reminiscent of ciliopathy morphants, this effect was rescued by human XPNPEP3 that was devoid of a mitochondrial localization signal (PMID: 20179356).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.134 | PMPCB | Sarah Leigh Phenotypes for gene: PMPCB were changed from Multiple mitochondrial dysfunctions syndrome 6, 617954 to Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954; multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.101 | G6PC | Catherine Snow Tag new-gene-name tag was added to gene: G6PC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.101 | G6PC | Catherine Snow commented on gene: G6PC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.55 | TRAPPC11 | Sarah Leigh Publications for gene: TRAPPC11 were set to 23830518; 26322222; 29855340; 30105108; 26912795; 27707803; 27862579; 28484880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.54 | TRAPPC11 | Sarah Leigh Phenotypes for gene: TRAPPC11 were changed from Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM:615356; autosomal recessive limb-girdle muscular dystrophy type 2S MONDO:0014144 to Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM:615356; autosomal recessive limb-girdle muscular dystrophy type 2S MONDO:0014144 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.53 | TRAPPC11 | Sarah Leigh Publications for gene: TRAPPC11 were set to 23830518; 26912795 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.53 | TRAPPC11 | Sarah Leigh Phenotypes for gene: TRAPPC11 were changed from Muscular dystrophy, limb-girdle, type 2S to Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM:615356; autosomal recessive limb-girdle muscular dystrophy type 2S MONDO:0014144 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.52 | TRAPPC11 | Sarah Leigh Classified gene: TRAPPC11 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.52 | TRAPPC11 | Sarah Leigh Gene: trappc11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.51 | TRAPPC11 | Sarah Leigh reviewed gene: TRAPPC11: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.1 | PCYT2 |
Sarah Leigh edited their review of gene: PCYT2: Added comment: Vaz et al. (2019 - PMID: 31637422 - DDD study among the co-authors) report on 5 individuals - from 4 families - with biallelic PCYT2 mutations. The phenotype corresponded to a complex hererditary paraplegia with global DD, regression (4/5), ID (mild in 3/5, severe in 2/5), spastic para-/tetraparesis, epilepsy (5/5 - variable onset 2-16 yrs - focal or tonic-clonic seizures) and progressive cerebral and cerebellar atrophy. Exome sequencing in all revealed biallelic PCYT2 variants, confirmed with Sanger s. in probands and their parents (NM_001184917.2 - corresponding to the canonical transcript used as Ref below): - P1 (Fam1) : 2 missense SNVs in trans configuration, c.730C>T or p.His244Tyr and c.920C>T or p.Pro307Leu - P2 (Fam2 - consanguineous of White British origin), P3 (Fam3 - Consanguineous of Turkish origin), P4,5 (Fam4 - consanguineous, unspecified origin) : homozygosity for c.1129C>T or p.Arg377Ter) affecting the last exon of 8/12 transcripts, including the canonical one. Individuals with the same genotype displayed variable degrees of ID (eg P3 - severe / P2, P4,5 - mild ID). For sibs in Fam4, homozygosity for a missense SACS variant led to consideration of the respective disorder (AR spastic ataxia of Charlevoix-Saguenay) though the variant was predicted to be tolerated in silico and notably the MRI images not suggestive. All variants were absent from / had extremely low AF in public databases, with no homozygotes. Posphatidylethanolamine (PE) is a membrane lipid, particularly enriched in human brain (45% of phospholypid fraction). PE is synthesized either via the CDP-ethanolamine pathway or by decarboxylation of phosphatidylserine in mitochondria. PCYT2 encodes CTP:phosophoethanolamine cytidyltransferase (ET) which is an ubiquitously expressed rate-limiting enzyme for PE biosynthesis in the former pathway. In silico, the 2 missense variants - localizing in the CTP catalytic domain 2 - were predicted to be damaging, as well as to affect protein stability. Fibroblasts of 3 patients (P1, P2, P3) representing all variants were studied: - Enzymatic activity was shown to be significantly reduced (though not absent) compared to controls. Abnormalities were noted upon Western Blot incl. absence in all 3 patients studied of one of the 2 bands normally found in controls (probably representing the longer isoform), reduced intensity in all 3 of another band probably corresponding to a shorter isoform, and presence of an additional band of intermediate molec. mass in patients with the truncating variant. - RT-PCR on mRNA from patient fibroblasts did not reveal (significant) reduction compared to controls. - Lipidomic profile of patient fibroblasts was compatible with the location of the block in the phospholipid biosynthesis pathway and different from controls. The lipidomic profile had similarities with what has been reported for EPT1 deficiency, the enzyme directly downstream of ET. The SELENO1-related phenotype (/EPT1 deficiency) is also highly overlapping. CRISPR-Cas9 was used to generate pcyt2 partial or complete knockout (ko) zebrafish, targeting either the final (ex13) or another exon (ex3) respectively. mRNA expression was shown to be moderately reduced in the first case and severely reduced/absent in the second, compared to wt. Similarly, complete-ko (ex3) led to significantly lower survival, with impaired though somewhat better survival of partial-ko (ex13) zebrafish. Complete knockout of Pcyt2 in mice is embryonically lethal (PMID cited: 17325045) while heterozygous mice develop features of metabolic syndrome (PMID cited: 22764088). Given lethality in knockout zebrafish / mice and the residual activity (15-20%) in patient fibroblasts, the variants reported were thought to be hypomorphic and complete loss of function possibly incompatible with life. PCYT2 is not associated with any phenotype in OMIM/G2P/SysID and not commonly included in gene panels for ID. As a result this gene could included in the ID / epilepsy panels with green (~/>3 indiv/fam/variants with the nonsense found in different populations, consistent phenotype, lipidomics, in silico/in vitro/in vivo evidence) or amber rating. [Please consider inclusion in other possibly relevant panels eg. for metabolic disorders, etc]. Sources: Literature Konstantinos Varvagiannis (Other), 11 Nov 2019; Changed rating: GREEN |
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Likely inborn error of metabolism - targeted testing not possible v2.1 | PCYT2 |
Sarah Leigh gene: PCYT2 was added gene: PCYT2 was added to Inborn errors of metabolism. Sources: Literature Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCYT2 were set to 31637422; 17325045; 22764088 Phenotypes for gene: PCYT2 were set to Global developmental delay; Developmental regression; Intellectual disability; Spastic paraparesis; Seizures; Spastic tetraparesis; Cerebral atrophy; Cerebellar atrophy Review for gene: PCYT2 was set to RED Added comment: This gene was added by an external reviewer and rated Green on Hereditary spastic paraplegia gene panel (Version 1.210), and confirmed with Zerin Hyder (Genomics England Clinical Team) that this is appropriate to be Green on the Inborn errors of metabolism panel. The rating of this gene will be changed when the next reiteration of this panel is made. Sources: Literature |
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Likely inborn error of metabolism - targeted testing not possible v1.215 | PCSK9 | Sarah Leigh Mode of pathogenicity for gene: PCSK9 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.214 | PCSK9 | Sarah Leigh Classified gene: PCSK9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.214 | PCSK9 | Sarah Leigh Gene: pcsk9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.214 | PCSK9 | Sarah Leigh Phenotypes for gene: PCSK9 were changed from Hypercholesterolemia, familial, 3 603776; {Low density lipoprotein cholesterol level QTL 1} 60377 to Hypercholesterolemia, familial, 3 603776; {Low density lipoprotein cholesterol level QTL 1} 603776 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.213 | PCSK9 | Sarah Leigh Publications for gene: PCSK9 were set to 27604308; 12730697; 14727179; 15772090; 15654334; 16909389 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.213 | PCSK9 | Sarah Leigh Publications for gene: PCSK9 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.212 | PCSK9 | Sarah Leigh Phenotypes for gene: PCSK9 were changed from Familial hypercholesterolaemia; Autosomal dominant hypercholesterolemia-3 (Inherited hypercholesterolaemias) to Hypercholesterolemia, familial, 3 603776; {Low density lipoprotein cholesterol level QTL 1} 60377 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.211 | PCK1 | Sarah Leigh Classified gene: PCK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.211 | PCK1 | Sarah Leigh Gene: pck1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.210 | PCK1 | Sarah Leigh Classified gene: PCK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.210 | PCK1 | Sarah Leigh Gene: pck1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.210 | PCK1 | Sarah Leigh Classified gene: PCK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.210 | PCK1 | Sarah Leigh Gene: pck1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.209 | PCK1 | Sarah Leigh Publications for gene: PCK1 were set to 27604308; 24863970; 26971250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.208 | PCK1 | Sarah Leigh Publications for gene: PCK1 were set to 27604308; 24863970; 26971250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.208 | PCK1 | Sarah Leigh Publications for gene: PCK1 were set to 27604308; 24863970; 26971250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.207 | PCK1 | Sarah Leigh Publications for gene: PCK1 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.207 | PCK1 | Sarah Leigh Added comment: Comment on phenotypes: Phosphoenolpyruvate carboxykinase deficiency (Disorders of gluconeogenesis);Cytosolic phosphoenolpyruvate carboxykinase (PEPCK)) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.207 | PCK1 | Sarah Leigh Phenotypes for gene: PCK1 were changed from Phosphoenolpyruvate carboxykinase deficiency (Disorders of gluconeogenesis); ?Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency; (PCK1 DEFICIENCY, Cytosolic phosphoenolpyruvate carboxykinase (PEPCK)) to ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic 261680 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.170 | LIPC | Sarah Leigh Phenotypes for gene: LIPC were changed from {Diabetes mellitus, noninsulin-dependent} 125853; Hepatic lipase deficiency 614025; [High density lipoprotein cholesterol level QTL 12] 612797 to Hepatic lipase deficiency, 614025; [High density lipoprotein cholesterol level QTL 12] 612797; {Diabetes mellitus, noninsulin-dependent} 125853 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.170 | LIPC | Sarah Leigh Publications for gene: LIPC were set to 27604308; 1671786; 12777476; 22464213; 23219720 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.169 | LIPC | Sarah Leigh Publications for gene: LIPC were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.169 | LIPC | Sarah Leigh Classified gene: LIPC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.169 | LIPC | Sarah Leigh Gene: lipc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.168 | LIPC | Sarah Leigh Phenotypes for gene: LIPC were changed from {Diabetes mellitus, noninsulin-dependent} 125853; Hepatic lipase deficiency (Inherited mixed hyperlipidaemias); Hepatic lipase deficiency, 614025; [High density lipoprotein cholesterol level QTL 12] 612797 to {Diabetes mellitus, noninsulin-dependent} 125853; Hepatic lipase deficiency 614025; [High density lipoprotein cholesterol level QTL 12] 612797 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.76 | PMPCB |
Sarah Leigh gene: PMPCB was added gene: PMPCB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PMPCB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMPCB were set to 29576218 Phenotypes for gene: PMPCB were set to Multiple mitochondrial dysfunctions syndrome 6, 617954 |
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Likely inborn error of metabolism - targeted testing not possible v1.76 | MPC1 |
Sarah Leigh Source Expert Review Green was added to MPC1. Mode of inheritance for gene MPC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial pyruvate carrier deficiency, 614741 for gene: MPC1 Publications for gene MPC1 were changed from to 27176894; 22628558; 27835892 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | PCSK9 |
Ivone Leong Source NHS GMS was added to PCSK9. Source London North GLH was added to PCSK9. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | PCK1 |
Ivone Leong Source NHS GMS was added to PCK1. Source London North GLH was added to PCK1. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | PCCB |
Ivone Leong Source NHS GMS was added to PCCB. Source London North GLH was added to PCCB. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | PCCA |
Ivone Leong Source NHS GMS was added to PCCA. Source London North GLH was added to PCCA. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | PCBD1 |
Ivone Leong Source NHS GMS was added to PCBD1. Source London North GLH was added to PCBD1. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | PC |
Ivone Leong Source NHS GMS was added to PC. Source London North GLH was added to PC. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | NPC2 |
Ivone Leong Source NHS GMS was added to NPC2. Source London North GLH was added to NPC2. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | NPC1 |
Ivone Leong Source NHS GMS was added to NPC1. Source London North GLH was added to NPC1. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | LIPC |
Ivone Leong Source NHS GMS was added to LIPC. Source London North GLH was added to LIPC. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | G6PC3 |
Ivone Leong Source NHS GMS was added to G6PC3. Source London North GLH was added to G6PC3. |
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Likely inborn error of metabolism - targeted testing not possible v1.47 | G6PC |
Ivone Leong Source NHS GMS was added to G6PC. Source London North GLH was added to G6PC. |
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Likely inborn error of metabolism - targeted testing not possible v1.28 | NPC2 | Louise Daugherty Phenotypes for gene: NPC2 were changed from to Niemann-Pick disease type C2, 607625 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | MPC1 |
Ellen McDonagh gene: MPC1 was added gene: MPC1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: MPC1 was set to Unknown Phenotypes for gene: MPC1 were set to Mitochondrial pyruvate carrier deficiency, 614741 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SDHC |
Ellen McDonagh gene: SDHC was added gene: SDHC was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SDHC were set to 27604308 Phenotypes for gene: SDHC were set to Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Neuro-endocrine Tumours- PCC and PGL; Multiple endocrine tumours; Multiple Tumours |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PCSK9 |
Ellen McDonagh gene: PCSK9 was added gene: PCSK9 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PCSK9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PCSK9 were set to 27604308 Phenotypes for gene: PCSK9 were set to Familial hypercholesterolaemia; Autosomal dominant hypercholesterolemia-3 (Inherited hypercholesterolaemias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SDHAF2 |
Ellen McDonagh gene: SDHAF2 was added gene: SDHAF2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SDHAF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SDHAF2 were set to 27604308 Phenotypes for gene: SDHAF2 were set to Neuro-endocrine Tumours- PCC and PGL; Multiple endocrine tumours; Multiple Tumours; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | TRAPPC11 |
Ellen McDonagh gene: TRAPPC11 was added gene: TRAPPC11 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC11 were set to 23830518; 26912795 Phenotypes for gene: TRAPPC11 were set to Muscular dystrophy, limb-girdle, type 2S |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PMPCA |
Ellen McDonagh Added phenotypes slowly progressive cerebellar ataxia; non-progressive cerebellar ataxia for gene: PMPCA Publications for gene PMPCA were changed from PMID: 25808372; PMID: 26657514 to 26657514; 25808372 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PMPCA |
Ellen McDonagh gene: PMPCA was added gene: PMPCA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMPCA were set to PMID: 25808372; PMID: 26657514 Phenotypes for gene: PMPCA were set to slowly progressive cerebellar ataxia; non-progressive cerebellar ataxia |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PCK1 |
Ellen McDonagh gene: PCK1 was added gene: PCK1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PCK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCK1 were set to 27604308 Phenotypes for gene: PCK1 were set to Phosphoenolpyruvate carboxykinase deficiency (Disorders of gluconeogenesis); ?Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency; (PCK1 DEFICIENCY, Cytosolic phosphoenolpyruvate carboxykinase (PEPCK)) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PCCB |
Ellen McDonagh gene: PCCB was added gene: PCCB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCCB were set to 27604308 Phenotypes for gene: PCCB were set to as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections); Propionic acidemia; Propionicacidemia 606054; Propionicacidemia; Propionic aciduria (Organic acidurias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PCCA |
Ellen McDonagh gene: PCCA was added gene: PCCA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCCA were set to 27604308 Phenotypes for gene: PCCA were set to Propionicacidemia; Propionic acidemia; Propionicacidemia 606054; metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections; Propionic aciduria (Organic acidurias) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PCBD1 |
Ellen McDonagh gene: PCBD1 was added gene: PCBD1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCBD1 were set to 27604308 Phenotypes for gene: PCBD1 were set to Hyperphenylalaninemia, BH4-deficient, D |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PC | Ellen McDonagh Added phenotypes Pyruvate carboxylase deficiency for gene: PC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | PC |
Ellen McDonagh gene: PC was added gene: PC was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PC were set to 27604308 Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency (Disorders of gluconeogenesis); lactic acidosis, hypotonia, encephalopathy; Pyruvate carboxylase deficiency 266150; Pyruvate carboxylase deficiency |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NPC2 |
Ellen McDonagh gene: NPC2 was added gene: NPC2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPC2 were set to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NPC1 |
Ellen McDonagh gene: NPC1 was added gene: NPC1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPC1 were set to 27604308 Phenotypes for gene: NPC1 were set to Niemann-Pick disease, type C1 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LIPC |
Ellen McDonagh gene: LIPC was added gene: LIPC was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: LIPC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPC were set to 27604308 Phenotypes for gene: LIPC were set to {Diabetes mellitus, noninsulin-dependent} 125853; Hepatic lipase deficiency (Inherited mixed hyperlipidaemias); Hepatic lipase deficiency, 614025; [High density lipoprotein cholesterol level QTL 12] 612797 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | G6PC3 |
Ellen McDonagh gene: G6PC3 was added gene: G6PC3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: G6PC3 were set to Dursun syndrome |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | G6PC | Ellen McDonagh Added phenotypes Glycogen storage disease Ia for gene: G6PC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | G6PC |
Ellen McDonagh gene: G6PC was added gene: G6PC was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: G6PC were set to 27604308 Phenotypes for gene: G6PC were set to Glycogen Storage Disease Type I; Glycogen Storage Disorders- Liver; Glycogen Storage Disease; Glycogen Storage Disease Ia; Glycogen storage disease Ia, 232200; Glycogen storage disease type 1a, von Gierke (Glycogen storage disorders); fasting intolerance with enlarged liver, renal tubular disease |